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The genetics of obstructive sleep apnoea
Sutapa Mukherjee1,2, Richa Saxena3,4, Lyle J Palmer5
1Sleep Health Service, Respiratory and Sleep Services, Southern Adelaide Local Health Network, Adelaide, South Australia, Australia.
Respirology (Carlton, Vic.)
|November 8, 2017
Summary
Obstructive sleep apnoea (OSA) is a heritable condition with genetic links to obesity and sleep regulation. Genomic research is crucial for understanding OSA
Area of Science:
- Genetics
- Sleep Medicine
- Genomic Epidemiology
Background:
- Obstructive sleep apnoea (OSA) is a prevalent chronic condition with significant socioeconomic impact.
- OSA heritability is influenced by direct genetic factors and intermediate phenotypes like obesity and craniofacial structure.
- Genetic research in OSA is vital for understanding disease mechanisms and developing new treatments.
Purpose of the Study:
- To review the current understanding of obstructive sleep apnoea (OSA) genetics.
- To highlight the role of genomic approaches in OSA research.
- To identify gaps in knowledge regarding OSA genetic epidemiology.
Main Methods:
- Review of existing literature on OSA genetics.
- Focus on genomic studies and their findings.
- Analysis of genetic contributions to intermediate phenotypes relevant to OSA.
Main Results:
- Recent gene discovery efforts have identified loci associated with OSA intermediate phenotypes.
- Genetic factors contribute to OSA susceptibility through various pathways.
- Significant questions regarding OSA genetic epidemiology remain unanswered.
Conclusions:
- Genomic approaches are increasingly important for understanding OSA.
- Further research is needed to fully elucidate the genetic architecture of OSA.
- Improved genetic understanding may lead to novel preventive and therapeutic strategies for OSA.
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